RGD:14731447 Rat Genome Database

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Variant: RGD:14731447 -  Homo sapiens

RGD ID: 14731447
RS ID: rs56141488
ClinVar ID: CV660741
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WFS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 6,290,479
GRCh38 4 6,288,752
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145853.1:c.316-235C>G
NM_006005.3:c.316-235C>G
NG_011700.1:g.23903C>G
NC_000004.12:g.6288752C>G
More... 		06/14/2018 intron variant benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:WFS1
Accession:NM_006005
Location:INTRON

Gene Symbol:WFS1
Accession:NM_001145853
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12955714   PMID:17603484   PMID:18060660   PMID:20301750   PMID:20738327   PMID:33879153  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000836128 CLINVAR
  RCV002509102 CLINVAR
dbSNP (RS) rs56141488 CLINVAR
MedGen C3661900 CLINVAR
  C4551693 CLINVAR
NCBI Gene WFS1 CLINVAR
OMIM 222300 CLINVAR
  606201 CLINVAR